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Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Kelmer Sacramento E, Shah SI, Nalls MA, Colon-Mercado J, Reyes JF, Ryan VH, Nelson MP, Cook C, Li Z, Screven L, Kwan JY, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff N, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Rohrer J, Malaspina A, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: glass jd. bioRxiv [Preprint]. 2023 Jan 23:2023.01.23.525149. doi: 10.1101/2023.01.23.525149. bioRxiv. 2023. Update in: Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162 PMID: 36747793 Free PMC article. Updated. Preprint.
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains.
Chung M, Carter EK, Veire AM, Dammer EB, Chang J, Duong DM, Raj N, Bassell GJ, Glass JD, Gendron TF, Nelson PT, Levey AI, Seyfried NT, McEachin ZT. Chung M, et al. Among authors: glass jd. Acta Neuropathol. 2024 Feb 3;147(1):29. doi: 10.1007/s00401-023-02671-0. Acta Neuropathol. 2024. PMID: 38308693 Free PMC article.
The importance of understanding minimal important difference for ALSFRS-R: A reply to 'Do we really need to calculate a minimal important difference for ALSFRS-R?' https://doi.org/10.1080/21678421.2023.2248199.
Fournier CN, Glass JD. Fournier CN, et al. Among authors: glass jd. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Feb;25(1-2):216-217. doi: 10.1080/21678421.2023.2257743. Epub 2024 Jan 23. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 37728322 No abstract available.
Theme 2 Genetics and genomics.
Roggenbuck J, Doyle C, Lincoln T, Glass J. Roggenbuck J, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):114-134. doi: 10.1080/21678421.2019.1646990. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 31702465
Evidence-based consensus guidelines for ALS genetic testing and counseling.
Roggenbuck J, Eubank BHF, Wright J, Harms MB, Kolb SJ; ALS Genetic Testing and Counseling Guidelines Expert Panel. Roggenbuck J, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2074-2091. doi: 10.1002/acn3.51895. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2023. PMID: 37691292 Free PMC article.
Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.
Grant OA, Iacoangeli A, Zwamborn RAJ, van Rheenen W, Byrne R, Van Eijk KR, Kenna K, van Vugt JJFA, Cooper-Knock J, Kenna B, Vural A, Topp S, Campos Y, Weber M, Smith B, Dobson R, van Es MA, Vourc'h P, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Mill J, Garton F, McRae A, Wray NR, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Van Damme P, McLaughlin RL, van den Berg LH, Veldink JH, Al-Chalabi A, Al Khleifat A. Grant OA, et al. Among authors: glass jd. bioRxiv [Preprint]. 2024 Nov 25:2024.11.22.624866. doi: 10.1101/2024.11.22.624866. bioRxiv. 2024. PMID: 39651197 Free PMC article. Preprint.
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD See abstract for full author list ➔ Saez-Atienzar S, et al. Among authors: glass jd. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free PMC article.
ALSUntangled #76: Wahls protocol.
Li X, Wicks P, Brown A, Shivaprasad A, Greene M, Crayle J, Barnes B, Jhooty S, Ratner D, Olby N, Glass JD, Jackson C, Cole N, Armon C, Mascias Cadavid J, Pattee G, Mcdermott CJ, Chang V, Maragakis N, Bertorini T, Bowser R, Bedlack R. Li X, et al. Among authors: glass jd. Amyotroph Lateral Scler Frontotemporal Degener. 2025 Feb;26(1-2):181-185. doi: 10.1080/21678421.2024.2407407. Epub 2024 Oct 9. Amyotroph Lateral Scler Frontotemporal Degener. 2025. PMID: 39385461 Review.
416 results